Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare genetic condition that affects the white matter of the brainstem and spinal cord. It is also known as “van der Knaap disease” after the scientists who…
Peroxiredoxin 1 (PRDX1) is a gene that encodes for a protein belonging to the peroxiredoxin family. It is involved in the antioxidant defense system and plays a role in the protection of cells from oxidative stress. PRDX1 has been found…
Guanidinoacetate methyltransferase deficiency is a rare genetic condition associated with a deficiency in the enzyme guanidinoacetate methyltransferase. This deficiency causes a buildup of guanidinoacetate, a substance that is normally converted into creatine in the body. The condition is cataloged in…
The HAL gene, also known as histidine ammonia-lyase, is an enzyme involved in the breakdown of histidine, an essential amino acid. This gene is of significant interest in the scientific community due to its role in various conditions and diseases.…
Hereditary antithrombin deficiency is a rare genetic condition that causes an increased risk of blood clots. It is caused by mutations in the SERPINC1 gene, which codes for the antithrombin protein. Antithrombin is a natural anticoagulant in the bloodstream, and…
The DARS2 gene, also known as aspartyl-tRNA synthetase 2, is a gene that is involved in the synthesis of proteins. It is located on chromosome 1 and codes for an enzyme that is responsible for attaching the amino acid aspartic…
The SLC17A5 gene, also known as sialin, is a gene that encodes a protein involved in the transport of sialic acid. Sialic acid plays important roles in various biological processes, including cell adhesion, cell signaling, and immune responses. Mutations in…
The TGFB3 gene is responsible for encoding a protein called Transforming Growth Factor Beta 3 (TGFB3). This protein plays a crucial role in various physiological processes throughout the body, including growth and development, cell differentiation, and tissue repair. Mutations in…
The RPS24 gene is one of the many genes involved in the functioning of the ribosome, a central molecular complex responsible for protein synthesis. Mutations in this gene have been found to be associated with certain blood disorders, such as…
The POFUT1 gene is responsible for the production of a protein called Protein O-fucosyltransferase 1. Genes are sequences of DNA that contain the instructions for building proteins, which are essential for various biological processes in the body. Protein O-fucosyltransferase 1…